Abstract
Background: Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults. Studies utilizing the Drosophila model and knock out mouse model of fragile X syndrome (FXS) have found metformin to rescue memory, social novelty deficits, and neuroanatomical abnormalities. These studies provided preliminary evidence that metformin could be used as a targeted treatment for the cognitive and behavioral problems associated with FXS. Previously, a case series of children and adults with FXS treated with metformin demonstrated improvements in irritability, social responsiveness, language, and hyperactivity. Methods: Here, we present nine children with FXS between 2 and 7 years of age who were treated clinically with metformin and monitored for behavioral and metabolic changes. Results: Parent reports and developmental testing before and after metformin are presented. There were improvements in language development and behavior (such as lethargy and stereotypy) in most of the patients. Conclusion: These results support the need for a controlled trial of metformin in children with FXS under 7 years old whose brains are in a critical developmental window and thus may experience a greater degree of clinical benefit from metformin.
Original language | English (US) |
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Article number | e956 |
Journal | Molecular Genetics and Genomic Medicine |
Volume | 7 |
Issue number | 11 |
DOIs | |
State | Published - Nov 1 2019 |
Keywords
- FMR1
- fragile X syndrome
- metformin
- targeted treatments
- translational medicine
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Genetics(clinical)